HK1232260A1 - 檢測染色體部位的突變和倍性 - Google Patents

檢測染色體部位的突變和倍性

Info

Publication number
HK1232260A1
HK1232260A1 HK17105964.2A HK17105964A HK1232260A1 HK 1232260 A1 HK1232260 A1 HK 1232260A1 HK 17105964 A HK17105964 A HK 17105964A HK 1232260 A1 HK1232260 A1 HK 1232260A1
Authority
HK
Hong Kong
Prior art keywords
ploidy
detecting mutations
chromosomal segments
chromosomal
segments
Prior art date
Application number
HK17105964.2A
Other languages
English (en)
Chinese (zh)
Inventor
Joshua Babiarz
Tudor Pompiliu Constantin
Lane A Eubank
George Gemelos
Matthew Micah Hill
Huseyin Eser Kirkizlar
Matthew Rabinowitz
Onur Sakarya
Styrmir Sigurjonsson
Bernhard Zimmerman
Original Assignee
Natera Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=57221528&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=HK1232260(A1) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Priority claimed from PCT/US2015/026957 external-priority patent/WO2015164432A1/en
Application filed by Natera Inc filed Critical Natera Inc
Publication of HK1232260A1 publication Critical patent/HK1232260A1/zh

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N20/00—Machine learning
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N7/00—Computing arrangements based on specific mathematical models
    • G06N7/01—Probabilistic graphical models, e.g. probabilistic networks
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16Z—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS, NOT OTHERWISE PROVIDED FOR
    • G16Z99/00—Subject matter not provided for in other main groups of this subclass
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2539/00—Reactions characterised by analysis of gene expression or genome comparison
    • C12Q2539/10—The purpose being sequence identification by analysis of gene expression or genome comparison characterised by
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/16—Primer sets for multiplex assays
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation

Landscapes

  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Chemical & Material Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Theoretical Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Data Mining & Analysis (AREA)
  • Public Health (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Epidemiology (AREA)
  • Software Systems (AREA)
  • General Engineering & Computer Science (AREA)
  • Databases & Information Systems (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Immunology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Bioethics (AREA)
  • Pathology (AREA)
  • Biomedical Technology (AREA)
  • Primary Health Care (AREA)
  • General Physics & Mathematics (AREA)
  • Computing Systems (AREA)
  • Mathematical Physics (AREA)
HK17105964.2A 2014-04-21 2017-06-15 檢測染色體部位的突變和倍性 HK1232260A1 (zh)

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US201461982245P 2014-04-21 2014-04-21
US201461987407P 2014-05-01 2014-05-01
US201461994791P 2014-05-16 2014-05-16
US201462066514P 2014-10-21 2014-10-21
US201562146188P 2015-04-10 2015-04-10
US201562147377P 2015-04-14 2015-04-14
US201562148173P 2015-04-15 2015-04-15
PCT/US2015/026957 WO2015164432A1 (en) 2014-04-21 2015-04-21 Detecting mutations and ploidy in chromosomal segments

Publications (1)

Publication Number Publication Date
HK1232260A1 true HK1232260A1 (zh) 2018-01-05

Family

ID=57221528

Family Applications (1)

Application Number Title Priority Date Filing Date
HK17105964.2A HK1232260A1 (zh) 2014-04-21 2017-06-15 檢測染色體部位的突變和倍性

Country Status (8)

Country Link
US (13) US10179937B2 (ja)
EP (3) EP3134541B1 (ja)
JP (11) JP6659575B2 (ja)
CN (3) CN109971852A (ja)
AU (4) AU2015249846B2 (ja)
CA (1) CA2945962C (ja)
HK (1) HK1232260A1 (ja)
RU (1) RU2717641C2 (ja)

Families Citing this family (119)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US8825412B2 (en) 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
CA2821906C (en) 2010-12-22 2020-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
US9128861B2 (en) 2013-01-17 2015-09-08 Personalis, Inc. Methods and systems for genetic analysis
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ， インコーポレイテッド 変異の検出および染色体分節の倍数性
TWI813141B (zh) 2014-07-18 2023-08-21 香港中文大學 Ｄｎａ混合物中之組織甲基化模式分析
CN117402950A (zh) * 2014-07-25 2024-01-16 华盛顿大学 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法
EP2977912A1 (de) * 2014-07-25 2016-01-27 Franz-Peter Dr. Liebel Automatisierte Diagnostik
EP3212808B1 (en) 2014-10-30 2022-03-02 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US11302416B2 (en) * 2015-09-02 2022-04-12 Guardant Health Machine learning for somatic single nucleotide variant detection in cell-free tumor nucleic acid sequencing applications
WO2017181146A1 (en) 2016-04-14 2017-10-19 Guardant Health, Inc. Methods for early detection of cancer
AU2017249594B2 (en) * 2016-04-15 2023-08-24 Natera, Inc. Methods for lung cancer detection
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
JP6560465B1 (ja) 2016-09-30 2019-08-21 ガーダント ヘルス， インコーポレイテッド 無細胞核酸の多重解像度分析のための方法
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
GB201618485D0 (en) * 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
CA3039685A1 (en) 2016-11-30 2018-06-07 The Chinese University Of Hong Kong Analysis of cell-free dna in urine and other samples
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN108277267B (zh) * 2016-12-29 2019-08-13 安诺优达基因科技(北京)有限公司 检测基因突变的装置和用于对孕妇和胎儿的基因型进行分型的试剂盒
JP2020507149A (ja) * 2017-01-11 2020-03-05 コーニンクレッカ フィリップス エヌ ヴェＫｏｎｉｎｋｌｉｊｋｅ Ｐｈｉｌｉｐｓ Ｎ．Ｖ． 包含基準又は除外基準の検出自動化のための方法及びシステム
EP3585889A1 (en) 2017-02-21 2020-01-01 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
US11342047B2 (en) * 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CN108804876B (zh) * 2017-05-05 2022-03-15 中国科学院上海药物研究所 用于计算癌症样本纯度和染色体倍性的方法和装置
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
CN109136355A (zh) * 2017-06-19 2019-01-04 北京大学第三医院 一种体外评估胎儿双胎输血综合征发生的snp阵列芯片
WO2018237075A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. ASSESSING THE RISK OF GRAFT COMPLICATION WITH TOTAL ACELLULAR DNA
US11450121B2 (en) * 2017-06-27 2022-09-20 The Regents Of The University Of California Label-free digital brightfield analysis of nucleic acid amplification
CN107164535A (zh) * 2017-07-07 2017-09-15 沈阳宁沪科技有限公司 一种无创高通量甲基化结肠癌诊断、研究和治疗方法
US10622095B2 (en) * 2017-07-21 2020-04-14 Helix OpCo, LLC Genomic services platform supporting multiple application providers
WO2019083594A1 (en) * 2017-08-21 2019-05-02 The General Hospital Corporation COMPOSITIONS AND METHODS FOR CLASSIFYING TUMORS WITH INSTABILITY OF MICROSATELLITES
JP7029719B2 (ja) * 2017-08-31 2022-03-04 静岡県 バイオマーカー
CN110021355B (zh) * 2017-09-22 2021-05-04 深圳华大生命科学研究院 二倍体基因组测序片段的单倍体分型和变异检测方法和装置
EP3460071A1 (en) * 2017-09-22 2019-03-27 Lexogen GmbH Estimating pre-pcr fragment numbers from post-pcr frequencies of unique molecular identifiers
CN107641648A (zh) * 2017-10-19 2018-01-30 深圳华大基因股份有限公司 一种用于检测染色体畸变的标准品及其制备方法
JP7299169B2 (ja) * 2017-12-01 2023-06-27 イルミナ インコーポレイテッド 体細胞突然変異のクローン性を決定するための方法及びシステム
CN112365927B (zh) * 2017-12-28 2023-08-25 安诺优达基因科技(北京)有限公司 Cnv检测装置
WO2019200398A1 (en) * 2018-04-13 2019-10-17 Dana-Farber Cancer Institute, Inc. Ultra-sensitive detection of cancer by algorithmic analysis
US11874220B2 (en) 2018-04-26 2024-01-16 Ppg Industries Ohio, Inc. Formulation systems and methods employing target coating data results
US10970879B2 (en) 2018-04-26 2021-04-06 Ppg Industries Ohio, Inc. Formulation systems and methods employing target coating data results
US11119035B2 (en) * 2018-04-26 2021-09-14 Ppg Industries Ohio, Inc. Systems and methods for rapid coating composition determinations
US10871888B2 (en) 2018-04-26 2020-12-22 Ppg Industries Ohio, Inc. Systems, methods, and interfaces for rapid coating generation
CN108588201B (zh) * 2018-05-11 2019-08-09 浙江省人民医院 一种结直肠癌西妥昔单抗耐药性痕量dna突变检测的方法及装置
US10801064B2 (en) 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
CA3098321A1 (en) 2018-06-01 2019-12-05 Grail, Inc. Convolutional neural network systems and methods for data classification
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN109461473B (zh) * 2018-09-30 2019-12-17 北京优迅医疗器械有限公司 胎儿游离dna浓度获取方法和装置
CN109971846A (zh) * 2018-11-29 2019-07-05 时代基因检测中心有限公司 使用双等位基因snp靶向下一代测序的非侵入性产前测定非整倍体的方法
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
CN109686401B (zh) * 2018-12-19 2022-08-05 上海蓝沙生物科技有限公司 一种识别异源低频基因组信号唯一性的方法及其应用
CN109801677B (zh) * 2018-12-29 2023-05-23 浙江安诺优达生物科技有限公司 测序数据自动化分析方法、装置和电子设备
EP3915118A1 (en) * 2019-01-25 2021-12-01 Pacific Biosciences Of California, Inc. Systems and methods for graph based mapping of nucleic acid fragments
CN109837344B (zh) * 2019-03-04 2022-12-27 天津医科大学 一种甲基化的EphA7核苷酸片段及其检测方法和应用
WO2020206290A1 (en) * 2019-04-03 2020-10-08 The Medical College Of Wisconsin, Inc. Methods for assessing risk using total cell-free dna
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples
CN110129439A (zh) * 2019-04-28 2019-08-16 安徽鼎晶生物科技有限公司 一种人brca1/2基因变异检测质控品及其制备方法和应用
CN110106063B (zh) * 2019-05-06 2022-07-08 臻和精准医学检验实验室无锡有限公司 基于二代测序的用于神经胶质瘤1p/19q联合缺失检测的系统
WO2020232109A1 (en) * 2019-05-13 2020-11-19 Grail, Inc. Model-based featurization and classification
JP2022534634A (ja) * 2019-06-03 2022-08-03 イルミナ インコーポレイテッド 検出限界ベースの品質管理メトリック
CN110379465A (zh) * 2019-07-19 2019-10-25 元码基因科技（北京）股份有限公司 基于rna靶向测序和机器学习的癌症组织溯源方法
CN110452988A (zh) * 2019-08-27 2019-11-15 武汉友芝友医疗科技股份有限公司 检测esr1基因突变的引物组、试剂、试剂盒和方法
CN110648722B (zh) * 2019-09-19 2022-05-31 首都医科大学附属北京儿童医院 新生儿遗传病患病风险评估的装置
CN112634986A (zh) * 2019-09-24 2021-04-09 厦门希吉亚生物科技有限公司 一种基于孕妇外周血对双胞胎合子性质的无创鉴定方法
CA3156589A1 (en) 2019-11-06 2021-05-14 David M. Kurtz Methods and systems for analyzing nucleic acid molecules
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
CN113496769B (zh) * 2020-03-20 2023-11-07 梅傲科技(广州)有限公司 基于病理组织的三联综合肿瘤分析系统和应用
CN111370065B (zh) * 2020-03-26 2022-10-04 北京吉因加医学检验实验室有限公司 一种检测rna跨样本交叉污染率的方法和装置
CN112885406B (zh) * 2020-04-16 2023-01-31 深圳裕策生物科技有限公司 检测hla杂合性缺失的方法及系统
US20210326332A1 (en) * 2020-04-17 2021-10-21 International Business Machines Corporation Temporal directed cycle detection and pruning in transaction graphs
CN111724860B (zh) * 2020-06-18 2021-03-16 深圳吉因加医学检验实验室 一种基于测序数据识别染色质开放区域的方法及装置
US11675599B2 (en) * 2020-08-04 2023-06-13 Dell Products L.P. Systems and methods for managing system rollup of accelerator health
CN114277129A (zh) * 2020-09-28 2022-04-05 北京市神经外科研究所 一种swi/snf基因改变在辅助诊断和预后脊索瘤中的应用
CN112094911A (zh) * 2020-10-10 2020-12-18 广西医科大学 Nrk在肺癌治疗和预后诊断中的医药用途
CN112397144B (zh) * 2020-10-29 2021-06-15 无锡臻和生物科技股份有限公司 检测基因突变及表达量的方法及装置
WO2022094310A1 (en) * 2020-10-30 2022-05-05 Myome, Inc. Use of non-error-propagating phasing techniques and combination of allelic balance to improve cnv detection
US11354286B1 (en) * 2020-11-02 2022-06-07 Workday, Inc. Outlier identification and removal
CN112634991B (zh) * 2020-12-18 2022-07-19 长沙都正生物科技股份有限公司 基因分型方法、装置、电子设备及存储介质
CN112592976B (zh) * 2020-12-30 2021-09-21 深圳市海普洛斯生物科技有限公司 一种检测met基因扩增的方法及装置
WO2022190752A1 (ja) 2021-03-12 2022-09-15 富士フイルム株式会社 がん検査試薬セット、がん検査試薬セットの製造方法及びがん検査方法
CN113096736B (zh) * 2021-03-26 2023-10-31 北京源生康泰基因科技有限公司 一种基于纳米孔测序的病毒实时自动分析方法及系统
WO2022212590A1 (en) * 2021-03-31 2022-10-06 Predicine, Inc. Systems and methods for multi-analyte detection of cancer
US11783912B2 (en) 2021-05-05 2023-10-10 The Board Of Trustees Of The Leland Stanford Junior University Methods and systems for analyzing nucleic acid molecules
CN113637751A (zh) * 2021-07-16 2021-11-12 暨南大学 Tnfaip3非编码序列突变检测试剂在制备预测t细胞淋巴瘤预后试剂盒中的应用
CN113808660B (zh) * 2021-09-13 2024-02-13 复旦大学附属华山医院 基于自然选择及数据库的遗传性罕见病患病率贝叶斯计算模型及其构建方法和应用
CN118103525A (zh) * 2021-10-08 2024-05-28 基金会医学公司 用于自动调用拷贝数改变的方法和系统
WO2023081639A1 (en) * 2021-11-03 2023-05-11 Foundation Medicine, Inc. System and method for identifying copy number alterations
US20230162813A1 (en) * 2021-11-23 2023-05-25 Eone Reference Laboratory Apparatus and method for diagnosing cancer using liquid biopsy data
CN114093417B (zh) * 2021-11-23 2022-10-04 深圳吉因加信息科技有限公司 一种鉴定染色体臂杂合性缺失的方法和装置
CN113913525A (zh) * 2021-11-24 2022-01-11 广州医科大学 Dnase1l3基因作为肝癌侵袭转移的检测和/或防治靶点的应用
US11788152B2 (en) 2022-01-28 2023-10-17 Flagship Pioneering Innovations Vi, Llc Multiple-tiered screening and second analysis
WO2023164017A2 (en) * 2022-02-22 2023-08-31 Flagship Pioneering Innovations Vi, Llc Intra-individual analysis for presence of health conditions
WO2023177901A1 (en) * 2022-03-17 2023-09-21 Delfi Diagnostics, Inc. Method of monitoring cancer using fragmentation profiles
CN114807377B (zh) * 2022-06-29 2022-09-23 南京世和基因生物技术股份有限公司 膀胱癌预后生存期标志物的应用、评估装置以及计算机可读取介质
CN116004800B (zh) * 2022-12-09 2023-09-05 中国农业科学院北京畜牧兽医研究所 一种cnv标记在绵羊肥瘦尾早期筛选中的应用
CN116386718B (zh) * 2023-05-30 2023-08-01 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质
CN117551782B (zh) * 2023-11-24 2024-05-07 江苏省家禽科学研究所 与鸡蛋尖端蛋壳厚度相关的分子标记在鸡遗传育种中的应用

Family Cites Families (548)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US3957654A (en) 1974-02-27 1976-05-18 Becton, Dickinson And Company Plasma separator with barrier to eject sealant
US4040785A (en) 1976-10-18 1977-08-09 Technicon Instruments Corporation Lysable blood preservative composition
US5242794A (en) 1984-12-13 1993-09-07 Applied Biosystems, Inc. Detection of specific sequences in nucleic acids
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4935342A (en) 1986-12-01 1990-06-19 Syngene, Inc. Method of isolating and purifying nucleic acids from biological samples
US4942124A (en) 1987-08-11 1990-07-17 President And Fellows Of Harvard College Multiplex sequencing
JP3040121B2 (ja) 1988-01-12 2000-05-08 ジェネンテク，インコーポレイテッド 増殖因子レセプターの機能を阻害することにより腫瘍細胞を処置する方法
US5153117A (en) 1990-03-27 1992-10-06 Genetype A.G. Fetal cell recovery method
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
US5262329A (en) 1991-06-13 1993-11-16 Carver Jr Edward L Method for improved multiple species blood analysis
IL103935A0 (en) 1991-12-04 1993-05-13 Du Pont Method for the identification of microorganisms by the utilization of directed and arbitrary dna amplification
US5856097A (en) 1992-03-04 1999-01-05 The Regents Of The University Of California Comparative genomic hybridization (CGH)
GB9305984D0 (en) 1993-03-23 1993-05-12 Royal Free Hosp School Med Predictive assay
DE708649T1 (de) 1993-07-05 2001-09-20 North Gen Hospital Nhs Trust Präparation und stabilisation von zellen
WO1995006137A1 (en) 1993-08-27 1995-03-02 Australian Red Cross Society Detection of genes
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
SE9400522D0 (sv) 1994-02-16 1994-02-16 Ulf Landegren Method and reagent for detecting specific nucleotide sequences
US5716776A (en) 1994-03-04 1998-02-10 Mark H. Bogart Enrichment by preferential mitosis of fetal lymphocytes from a maternal blood sample
US5891734A (en) 1994-08-01 1999-04-06 Abbott Laboratories Method for performing automated analysis
US6025128A (en) 1994-09-29 2000-02-15 The University Of Tulsa Prediction of prostate cancer progression by analysis of selected predictive parameters
US6479235B1 (en) 1994-09-30 2002-11-12 Promega Corporation Multiplex amplification of short tandem repeat loci
US5648220A (en) 1995-02-14 1997-07-15 New England Medical Center Hospitals, Inc. Methods for labeling intracytoplasmic molecules
JPH11505126A (ja) 1995-05-19 1999-05-18 アボツト・ラボラトリーズ プライマーシリーズ集団を使用する広い動的範囲の核酸検出
US6720140B1 (en) 1995-06-07 2004-04-13 Invitrogen Corporation Recombinational cloning using engineered recombination sites
US5733729A (en) 1995-09-14 1998-03-31 Affymetrix, Inc. Computer-aided probability base calling for arrays of nucleic acid probes on chips
US5854033A (en) 1995-11-21 1998-12-29 Yale University Rolling circle replication reporter systems
US5736033A (en) 1995-12-13 1998-04-07 Coleman; Charles M. Separator float for blood collection tubes with water swellable material
US6852487B1 (en) 1996-02-09 2005-02-08 Cornell Research Foundation, Inc. Detection of nucleic acid sequence differences using the ligase detection reaction with addressable arrays
EP0929694A4 (en) 1996-03-15 2002-05-02 Penn State Res Found DETECTION OF TUMOR-RELATED EXTRACELLULAR NUCLEIC ACID USING PLASMA OR BLOOD SERUM USING NUCLEIC ACID AMPLIFICATION TESTS
US6329179B1 (en) 1996-03-26 2001-12-11 Oncomedx, Inc. Method enabling use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate cancer
US6108635A (en) 1996-05-22 2000-08-22 Interleukin Genetics, Inc. Integrated disease information system
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US6100029A (en) * 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6221654B1 (en) 1996-09-25 2001-04-24 California Institute Of Technology Method and apparatus for analysis and sorting of polynucleotides based on size
US5860917A (en) 1997-01-15 1999-01-19 Chiron Corporation Method and apparatus for predicting therapeutic outcomes
US5824467A (en) 1997-02-25 1998-10-20 Celtrix Pharmaceuticals Methods for predicting drug response
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
EP0866071B1 (en) 1997-03-20 2004-10-20 F. Hoffmann-La Roche Ag Modified primers
EP1591541B1 (en) 1997-04-01 2012-02-15 Illumina Cambridge Limited Method of nucleic acid sequencing
US6143496A (en) 1997-04-17 2000-11-07 Cytonix Corporation Method of sampling, amplifying and quantifying segment of nucleic acid, polymerase chain reaction assembly having nanoliter-sized sample chambers, and method of filling assembly
US20020119478A1 (en) 1997-05-30 2002-08-29 Diagen Corporation Methods for detection of nucleic acid sequences in urine
US5994148A (en) 1997-06-23 1999-11-30 The Regents Of University Of California Method of predicting and enhancing success of IVF/ET pregnancy
US6833242B2 (en) 1997-09-23 2004-12-21 California Institute Of Technology Methods for detecting and sorting polynucleotides based on size
US6124120A (en) 1997-10-08 2000-09-26 Yale University Multiple displacement amplification
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US6406671B1 (en) 1998-12-05 2002-06-18 Becton, Dickinson And Company Device and method for separating components of a fluid sample
WO2000075306A2 (en) 1999-04-30 2000-12-14 Cyclops Genome Sciences Limited Method for producing double stranded polynucleotides
US6180349B1 (en) 1999-05-18 2001-01-30 The Regents Of The University Of California Quantitative PCR method to enumerate DNA copy number
US7058517B1 (en) 1999-06-25 2006-06-06 Genaissance Pharmaceuticals, Inc. Methods for obtaining and using haplotype data
US6964847B1 (en) 1999-07-14 2005-11-15 Packard Biosciences Company Derivative nucleic acids and uses thereof
GB9917307D0 (en) 1999-07-23 1999-09-22 Sec Dep Of The Home Department Improvements in and relating to analysis of DNA
EP1196623B8 (en) 1999-07-23 2008-05-21 Forensic Science Service Ltd Method for detecting single nucleotide polymorphisms
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
US6251604B1 (en) 1999-08-13 2001-06-26 Genopsys, Inc. Random mutagenesis and amplification of nucleic acid
EP1244811A1 (en) 1999-11-10 2002-10-02 Ligochem Inc. Method for isolating dna from a proteinaceous medium and kit for performing method
US6221603B1 (en) 2000-02-04 2001-04-24 Molecular Dynamics, Inc. Rolling circle amplification assay for nucleic acid analysis
EP1990428B1 (en) 2000-02-07 2010-12-22 Illumina, Inc. Nucleic acid detection methods using universal priming
US7955794B2 (en) 2000-09-21 2011-06-07 Illumina, Inc. Multiplex nucleic acid reactions
US7510834B2 (en) 2000-04-13 2009-03-31 Hidetoshi Inoko Gene mapping method using microsatellite genetic polymorphism markers
GB0009179D0 (en) 2000-04-13 2000-05-31 Imp College Innovations Ltd Non-invasive prenatal diagnosis
EP1290225A4 (en) 2000-05-20 2004-09-15 Univ Michigan METHOD FOR PRODUCING A DNA BANK BY POSITIONAL REPRODUCTION
WO2001090419A2 (en) 2000-05-23 2001-11-29 Variagenics, Inc. Methods for genetic analysis of dna to detect sequence variances
US6605451B1 (en) 2000-06-06 2003-08-12 Xtrana, Inc. Methods and devices for multiplexing amplification reactions
US7087414B2 (en) 2000-06-06 2006-08-08 Applera Corporation Methods and devices for multiplexing amplification reactions
AU2001255518A1 (en) 2000-06-07 2001-12-17 Baylor College Of Medicine Compositions and methods for array-based nucleic acid hybridization
US7058616B1 (en) 2000-06-08 2006-06-06 Virco Bvba Method and system for predicting resistance of a disease to a therapeutic agent using a neural network
GB0016742D0 (en) 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
DE60131903T2 (de) 2000-10-24 2008-11-27 The Board of Trustees of the Leland S. Stanford Junior University, Palo Alto Direkte multiplex charakterisierung von genomischer dna
US20020107640A1 (en) 2000-11-14 2002-08-08 Ideker Trey E. Methods for determining the true signal of an analyte
AU2002243263A1 (en) 2000-11-15 2002-07-24 Roche Diagnostics Corporation Methods and reagents for identifying rare fetal cells in the material circulation
WO2002044411A1 (en) 2000-12-01 2002-06-06 Rosetta Inpharmatics, Inc. Use of profiling for detecting aneuploidy
US7218764B2 (en) 2000-12-04 2007-05-15 Cytokinetics, Inc. Ploidy classification method
AR031640A1 (es) 2000-12-08 2003-09-24 Applied Research Systems Amplificacion isotermica de acidos nucleicos en un soporte solido
JP2002300894A (ja) 2001-02-01 2002-10-15 Inst Of Physical & Chemical Res 一塩基多型タイピング方法
US20020182622A1 (en) 2001-02-01 2002-12-05 Yusuke Nakamura Method for SNP (single nucleotide polymorphism) typing
US7101663B2 (en) 2001-03-02 2006-09-05 University of Pittsburgh—of the Commonwealth System of Higher Education PCR method
WO2002073504A1 (en) 2001-03-14 2002-09-19 Gene Logic, Inc. A system and method for retrieving and using gene expression data from multiple sources
US6489135B1 (en) 2001-04-17 2002-12-03 Atairgintechnologies, Inc. Determination of biological characteristics of embryos fertilized in vitro by assaying for bioactive lipids in culture media
FR2824144B1 (fr) 2001-04-30 2004-09-17 Metagenex S A R L Methode de diagnostic prenatal sur cellule foetale isolee du sang maternel
WO2002087431A1 (en) 2001-05-01 2002-11-07 Structural Bioinformatics, Inc. Diagnosing inapparent diseases from common clinical tests using bayesian analysis
US7262030B2 (en) 2001-05-09 2007-08-28 Virginia Commonwealth University Multiple sequencible and ligatible structures for genomic analysis
US20040126760A1 (en) 2001-05-17 2004-07-01 Natalia Broude Novel compositions and methods for carrying out multple pcr reactions on a single sample
US7026121B1 (en) 2001-06-08 2006-04-11 Expression Diagnostics, Inc. Methods and compositions for diagnosing and monitoring transplant rejection
WO2003000919A2 (en) 2001-06-22 2003-01-03 University Of Geneva Method for detecting diseases caused by chromosomal imbalances
US20030101000A1 (en) 2001-07-24 2003-05-29 Bader Joel S. Family based tests of association using pooled DNA and SNP markers
EP1421215B1 (en) 2001-07-25 2011-03-16 Oncomedx Inc. Methods for evaluating pathologic conditions using extracellular rna
US7297778B2 (en) 2001-07-25 2007-11-20 Affymetrix, Inc. Complexity management of genomic DNA
US6958211B2 (en) 2001-08-08 2005-10-25 Tibotech Bvba Methods of assessing HIV integrase inhibitor therapy
WO2003019141A2 (en) 2001-08-23 2003-03-06 Immunivest Corporation Analysis of circulating tumor cells, fragments, and debris
US6807491B2 (en) 2001-08-30 2004-10-19 Hewlett-Packard Development Company, L.P. Method and apparatus for combining gene predictions using bayesian networks
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
AUPR749901A0 (en) 2001-09-06 2001-09-27 Monash University Method of identifying chromosomal abnormalities and prenatal diagnosis
US7153656B2 (en) 2001-09-11 2006-12-26 Los Alamos National Security, Llc Nucleic acid sequence detection using multiplexed oligonucleotide PCR
US8986944B2 (en) 2001-10-11 2015-03-24 Aviva Biosciences Corporation Methods and compositions for separating rare cells from fluid samples
EP1442139A4 (en) 2001-10-12 2005-01-26 Univ Queensland SELECTION AND AMPLIFICATION OF MULTIPLE GENETIC MARKERS
US20040014067A1 (en) 2001-10-12 2004-01-22 Third Wave Technologies, Inc. Amplification methods and compositions
US6617137B2 (en) 2001-10-15 2003-09-09 Molecular Staging Inc. Method of amplifying whole genomes without subjecting the genome to denaturing conditions
US7297485B2 (en) 2001-10-15 2007-11-20 Qiagen Gmbh Method for nucleic acid amplification that results in low amplification bias
US7511704B2 (en) 2001-11-20 2009-03-31 Illinois Tool Works Inc. Acoustic wave touch bar system and method of use
US20030119004A1 (en) 2001-12-05 2003-06-26 Wenz H. Michael Methods for quantitating nucleic acids using coupled ligation and amplification
EP1462800A4 (en) 2001-12-11 2007-01-17 Netech Inc SYSTEM FOR SEPARATING BLOOD CELLS
US7198897B2 (en) 2001-12-19 2007-04-03 Brandeis University Late-PCR
DE60123448T2 (de) 2001-12-24 2007-08-23 Prof. Wolfgang Holzgreve Verfahren zur nicht-invasiven Diagnose von Transplantationen und Transfusionen
US20040115629A1 (en) 2002-01-09 2004-06-17 Panzer Scott R Molecules for diagnostics and therapeutics
US20030211522A1 (en) 2002-01-18 2003-11-13 Landes Gregory M. Methods for fetal DNA detection and allele quantitation
CA2474982A1 (en) 2002-02-01 2003-08-07 Rosetta Inpharmatics Llc Computer systems and methods for identifying genes and determining pathways associated with traits
WO2003074740A1 (en) 2002-03-01 2003-09-12 Ravgen, Inc. Rapid analysis of variations in a genome
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US20060229823A1 (en) 2002-03-28 2006-10-12 Affymetrix, Inc. Methods and computer software products for analyzing genotyping data
US7211191B2 (en) 2004-09-30 2007-05-01 Thermogenesis Corp. Blood component separation method and apparatus
US7241281B2 (en) 2002-04-08 2007-07-10 Thermogenesis Corporation Blood component separation method and apparatus
US20040096874A1 (en) 2002-04-11 2004-05-20 Third Wave Technologies, Inc. Characterization of CYP 2D6 genotypes
US20030235848A1 (en) 2002-04-11 2003-12-25 Matt Neville Characterization of CYP 2D6 alleles
US7208317B2 (en) 2002-05-02 2007-04-24 The University Of North Carolina At Chapel Hill In Vitro mutagenesis, phenotyping, and gene mapping
US20070178478A1 (en) 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US20040009518A1 (en) 2002-05-14 2004-01-15 The Chinese University Of Hong Kong Methods for evaluating a disease condition by nucleic acid detection and fractionation
US20040229231A1 (en) 2002-05-28 2004-11-18 Frudakis Tony N. Compositions and methods for inferring ancestry
NZ537328A (en) 2002-05-31 2008-04-30 Genetic Technologies Ltd Maternal antibodies as fetal cell markers to identify and enrich fetal cells from maternal blood
AU2003243475A1 (en) 2002-06-13 2003-12-31 New York University Early noninvasive prenatal test for aneuploidies and heritable conditions
US7097976B2 (en) 2002-06-17 2006-08-29 Affymetrix, Inc. Methods of analysis of allelic imbalance
US7108976B2 (en) 2002-06-17 2006-09-19 Affymetrix, Inc. Complexity management of genomic DNA by locus specific amplification
US20050009069A1 (en) 2002-06-25 2005-01-13 Affymetrix, Inc. Computer software products for analyzing genotyping
CN100354298C (zh) 2002-06-28 2007-12-12 兰华生物科技公司 使用单核苷酸多态性组分析受损样品的方法和组合物
EP1388812A1 (en) 2002-07-04 2004-02-11 Ronald E. Dr. Kates Method for training a learning-capable system
US20040117346A1 (en) 2002-09-20 2004-06-17 Kilian Stoffel Computer-based method and apparatus for repurposing an ontology
US7459273B2 (en) 2002-10-04 2008-12-02 Affymetrix, Inc. Methods for genotyping selected polymorphism
WO2004033649A2 (en) 2002-10-07 2004-04-22 University Of Medicine And Dentistry Of New Jersey High throughput multiplex dna sequence amplifications
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
WO2004044225A2 (en) 2002-11-11 2004-05-27 Affymetrix, Inc. Methods for identifying dna copy number changes
EP3000899A1 (en) 2002-12-04 2016-03-30 Applied Biosystems, LLC Multiplex amplification of polynucleotides
PT1583904E (pt) 2003-01-02 2013-11-25 Wobben Properties Gmbh Pá de rotor para uma central eólica
ES2329364T3 (es) 2003-01-17 2009-11-25 The Trustees Of Boston University Analisis de haplotipos.
WO2004065628A1 (en) 2003-01-21 2004-08-05 Guoliang Fu Quantitative multiplex detection of nucleic acids
CA2728746C (en) 2003-01-29 2018-01-16 454 Corporation Methods of amplifying and sequencing nucleic acids
US7575865B2 (en) 2003-01-29 2009-08-18 454 Life Sciences Corporation Methods of amplifying and sequencing nucleic acids
EP1599608A4 (en) 2003-03-05 2007-07-18 Genetic Technologies Ltd Identification of fetal DNA and fetal cell marker in maternal plasma or serum
EP1606417A2 (en) 2003-03-07 2005-12-21 Rubicon Genomics Inc. In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna
US20040197832A1 (en) 2003-04-03 2004-10-07 Mor Research Applications Ltd. Non-invasive prenatal genetic diagnosis using transcervical cells
CN1496413A (zh) 2003-05-09 2004-05-12 清华大学 用于多重pcr条件优化的方法和组分
BRPI0410656A (pt) 2003-05-28 2006-07-18 Pioneer Hi Bred Int método de melhoramento de planta e planta obtida
US20040259100A1 (en) 2003-06-20 2004-12-23 Illumina, Inc. Methods and compositions for whole genome amplification and genotyping
EP2107129B1 (en) 2003-07-31 2012-08-22 Sequenom, Inc. Methods for high level multiplexed polymerase chain reactions and homogeneous mass extension reactions for genotyping of polymorhisms
US8346482B2 (en) 2003-08-22 2013-01-01 Fernandez Dennis S Integrated biosensor and simulation system for diagnosis and therapy
AU2003263660A1 (en) 2003-08-29 2005-03-16 Pantarhei Bioscience B.V. Prenatal diagnosis of down syndrome by detection of fetal rna markers in maternal blood
EP2354253A3 (en) 2003-09-05 2011-11-16 Trustees of Boston University Method for non-invasive prenatal diagnosis
US20050053950A1 (en) 2003-09-08 2005-03-10 Enrique Zudaire Ubani Protocol and software for multiplex real-time PCR quantification based on the different melting temperatures of amplicons
JPWO2005028645A1 (ja) 2003-09-24 2007-11-15 株式会社産学連携機構九州 ＭＤＲ１遺伝子の５’制御領域におけるＳＮＰｓ
WO2005030999A1 (en) 2003-09-25 2005-04-07 Dana-Farber Cancer Institute, Inc Methods to detect lineage-specific cells
WO2005035725A2 (en) 2003-10-08 2005-04-21 The Trustees Of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
CA2482097C (en) 2003-10-13 2012-02-21 F. Hoffmann-La Roche Ag Methods for isolating nucleic acids
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
WO2005039389A2 (en) 2003-10-22 2005-05-06 454 Corporation Sequence-based karyotyping
JP2007515947A (ja) 2003-10-30 2007-06-21 タフツ−ニュー イングランド メディカル センター 羊水中の無細胞胎児ｄｎａを使用する出生前診断
US20050164252A1 (en) 2003-12-04 2005-07-28 Yeung Wah Hin A. Methods using non-genic sequences for the detection, modification and treatment of any disease or improvement of functions of a cell
US7892732B2 (en) 2004-01-12 2011-02-22 Roche Nimblegen, Inc. Method of performing PCR amplification on a microarray
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US7035740B2 (en) 2004-03-24 2006-04-25 Illumina, Inc. Artificial intelligence and global normalization methods for genotyping
JP4437050B2 (ja) 2004-03-26 2010-03-24 株式会社日立製作所 診断支援システム、診断支援方法および診断支援サービスの提供方法
WO2005094363A2 (en) 2004-03-30 2005-10-13 New York University System, method and software arrangement for bi-allele haplotype phasing
EP1732951B1 (en) 2004-03-31 2009-12-02 Adnagen AG Monoclonal antibodies with specificity for fetal erythroid cells
US7414118B1 (en) 2004-04-14 2008-08-19 Applied Biosystems Inc. Modified oligonucleotides and applications thereof
US7468249B2 (en) 2004-05-05 2008-12-23 Biocept, Inc. Detection of chromosomal disorders
US7709194B2 (en) 2004-06-04 2010-05-04 The Chinese University Of Hong Kong Marker for prenatal diagnosis and monitoring
WO2005123779A2 (en) 2004-06-14 2005-12-29 The Board Of Trustees Of The University Of Illinois Antibodies binding to cd34+/cd36+ fetal but not to adult cells
WO2006002491A1 (en) 2004-07-06 2006-01-12 Genera Biosystems Pty Ltd Method of detecting aneuploidy
DE102004036285A1 (de) 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
WO2006020617A1 (en) 2004-08-09 2006-02-23 Generation Biotech, Llc Method for nucleic acid isolation and amplification
WO2006023769A2 (en) 2004-08-18 2006-03-02 Abbott Molecular, Inc. Determining data quality and/or segmental aneusomy using a computer system
US7634808B1 (en) 2004-08-20 2009-12-15 Symantec Corporation Method and apparatus to block fast-spreading computer worms that use DNS MX record queries
JP4810164B2 (ja) 2004-09-03 2011-11-09 富士フイルム株式会社 核酸分離精製方法
US8024128B2 (en) 2004-09-07 2011-09-20 Gene Security Network, Inc. System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
US20060088574A1 (en) 2004-10-25 2006-04-27 Manning Paul B Nutritional supplements
US20060134662A1 (en) 2004-10-25 2006-06-22 Pratt Mark R Method and system for genotyping samples in a normalized allelic space
WO2006047787A2 (en) * 2004-10-27 2006-05-04 Exact Sciences Corporation Method for monitoring disease progression or recurrence
US20060141499A1 (en) 2004-11-17 2006-06-29 Geoffrey Sher Methods of determining human egg competency
US8389578B2 (en) 2004-11-24 2013-03-05 Adamas Pharmaceuticals, Inc Composition and method for treating neurological disease
US20070042384A1 (en) 2004-12-01 2007-02-22 Weiwei Li Method for isolating and modifying DNA from blood and body fluids
WO2006091979A2 (en) 2005-02-25 2006-08-31 The Regents Of The University Of California Full karyotype single cell chromosome analysis
US7618777B2 (en) 2005-03-16 2009-11-17 Agilent Technologies, Inc. Composition and method for array hybridization
EP1859050B1 (en) 2005-03-18 2012-10-24 The Chinese University Of Hong Kong A method for the detection of chromosomal aneuploidies
US7718367B2 (en) 2005-03-18 2010-05-18 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
US20060228721A1 (en) 2005-04-12 2006-10-12 Leamon John H Methods for determining sequence variants using ultra-deep sequencing
JP2008538496A (ja) 2005-04-12 2008-10-30 ４５４ ライフ サイエンシーズ コーポレイション ウルトラディープ配列決定を用いて配列変異体を決定するための方法
JP2008545418A (ja) 2005-05-27 2008-12-18 ジョン ウェイン キャンサー インスティチュート 癌の診断、予後診断、および治療のための遊離循環ｄｎａの使用
JP4879975B2 (ja) 2005-05-31 2012-02-22 アプライド バイオシステムズ リミテッド ライアビリティー カンパニー 短い核酸のマルチプレックス増幅
EP1910537A1 (en) 2005-06-06 2008-04-16 454 Life Sciences Corporation Paired end sequencing
DK1907583T4 (da) 2005-06-15 2020-01-27 Complete Genomics Inc Enkeltmolekyle-arrays til genetisk og kemisk analyse
ATE489473T1 (de) 2005-07-15 2010-12-15 Life Technologies Corp Analyse von boten-rna und mikro-rna im gleichen reaktionsansatz
US20070020640A1 (en) 2005-07-21 2007-01-25 Mccloskey Megan L Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis
RU2290078C1 (ru) * 2005-07-25 2006-12-27 Евгений Владимирович Новичков Способ прогнозирования рецидива серозного рака яичников
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US20070178501A1 (en) 2005-12-06 2007-08-02 Matthew Rabinowitz System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US20070027636A1 (en) 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
WO2007018601A1 (en) 2005-08-02 2007-02-15 Rubicon Genomics, Inc. Compositions and methods for processing and amplification of dna, including using multiple enzymes in a single reaction
JP2009507080A (ja) 2005-09-07 2009-02-19 リゲル ファーマシューティカルズ，インコーポレーテッド Ａｘｌ阻害剤として有用なトリアゾール誘導体
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
US20090228299A1 (en) 2005-11-09 2009-09-10 The Regents Of The University Of California Methods and apparatus for context-sensitive telemedicine
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
JP6121642B2 (ja) 2005-11-26 2017-04-26 ナテラ， インコーポレイテッド 予測を行うための、遺伝子データを清浄化し、そして、そのデータを使用するためのシステムおよび方法
US20070172853A1 (en) 2005-12-02 2007-07-26 The General Hospital Corporation Use of deletion polymorphisms to predict, prevent, and manage histoincompatibility
WO2007070482A2 (en) 2005-12-14 2007-06-21 Xueliang Xia Microarray-based preimplantation genetic diagnosis of chromosomal abnormalities
JP5198284B2 (ja) 2005-12-22 2013-05-15 キージーン ナムローゼ フェンノートシャップ 高処理量配列決定技術を使用する転写産物の特徴づけのための改良された戦略
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
WO2007092538A2 (en) 2006-02-07 2007-08-16 President And Fellows Of Harvard College Methods for making nucleotide probes for sequencing and synthesis
ATE514775T1 (de) 2006-02-08 2011-07-15 Illumina Cambridge Ltd Endenmodifikation zur verhinderung einer überrepräsentierung von fragmenten
US20100184043A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
DK1996728T3 (da) 2006-02-28 2011-08-15 Univ Louisville Res Found Detektering af føtale chromosomale abnormiteter under anvendelse af tandem-enkeltnukleotid-polymorfismer
CA2647280A1 (en) 2006-03-13 2007-09-20 Veridex, Llc Propagation of primary cells
US20080038733A1 (en) 2006-03-28 2008-02-14 Baylor College Of Medicine Screening for down syndrome
JP2009072062A (ja) 2006-04-07 2009-04-09 Institute Of Physical & Chemical Research 核酸の５’末端を単離するための方法およびその適用
US20070243549A1 (en) 2006-04-12 2007-10-18 Biocept, Inc. Enrichment of circulating fetal dna
US7754428B2 (en) 2006-05-03 2010-07-13 The Chinese University Of Hong Kong Fetal methylation markers
US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
EP3617321A3 (en) 2006-05-31 2020-04-29 Sequenom, Inc. Methods and compositions for the extraction and amplification of nucleic acid from a sample
US7981609B2 (en) 2006-06-09 2011-07-19 The Brigham And Women's Hospital, Inc. Methods for identifying and using SNP panels
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
EP3406736B1 (en) 2006-06-14 2022-09-07 Verinata Health, Inc. Methods for the diagnosis of fetal abnormalities
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
WO2007147074A2 (en) 2006-06-14 2007-12-21 Living Microsystems, Inc. Use of highly parallel snp genotyping for fetal diagnosis
EP3425058A1 (en) 2006-06-14 2019-01-09 Verinata Health, Inc Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
CA2655272C (en) 2006-06-14 2017-04-18 Living Microsystems, Inc. Rare cell analysis using sample splitting and dna tags
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
WO2009035447A1 (en) 2006-06-14 2009-03-19 Living Microsystems, Inc. Diagnosis of fetal abnormalities by comparative genomic hybridization analysis
WO2008111990A1 (en) 2006-06-14 2008-09-18 Cellpoint Diagnostics, Inc. Rare cell analysis using sample splitting and dna tags
US20080026451A1 (en) 2006-06-15 2008-01-31 Braman Jeffrey C System for isolating biomolecules from a sample
CA2655269A1 (en) 2006-06-16 2007-12-21 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
US20080182244A1 (en) 2006-08-04 2008-07-31 Ikonisys, Inc. Pre-Implantation Genetic Diagnosis Test
US9273309B2 (en) 2006-08-24 2016-03-01 University Of Massachusetts Mapping of genomic interactions
CA2663029C (en) 2006-09-14 2016-07-19 Ibis Biosciences, Inc. Targeted whole genome amplification method for identification of pathogens
US20080085836A1 (en) 2006-09-22 2008-04-10 Kearns William G Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy
US20110039258A1 (en) 2006-10-16 2011-02-17 Celula Inc. Methods and compositions for differential expansion of fetal cells in maternal blood and their use
US20100184152A1 (en) 2006-10-23 2010-07-22 Vladislav Sandler Target-oriented whole genome amplification of nucleic acids
KR100825367B1 (ko) 2006-11-07 2008-04-28 전남대학교산학협력단 표지자로서 미토콘드리아 유전자 과변이부위를 이용하는조혈모세포이식 후 생착능 평가방법 및 키트
WO2008069906A2 (en) 2006-11-14 2008-06-12 The Regents Of The University Of California Digital expression of gene analysis
WO2008059578A1 (fr) 2006-11-16 2008-05-22 Olympus Corporation Procédé d'amplification pcr multiplex
AU2007319214B2 (en) 2006-11-16 2014-04-17 Genentech, Inc. Genetic variations associated with tumors
WO2008079374A2 (en) 2006-12-21 2008-07-03 Wang Eric T Methods and compositions for selecting and using single nucleotide polymorphisms
WO2008081451A2 (en) 2007-01-03 2008-07-10 Monaliza Medical Ltd. Methods and kits for analyzing genetic material of a fetus
US20080164204A1 (en) 2007-01-08 2008-07-10 Mehdi Hatamian Valve for facilitating and maintaining separation of fluids and materials
PT2121977T (pt) 2007-01-11 2017-08-18 Erasmus Univ Medical Center Captura da conformação cromossómica circular (4c)
US20100129792A1 (en) 2007-02-06 2010-05-27 Gerassimos Makrigiorgos Direct monitoring and pcr amplification of the dosage and dosage difference between target genetic regions
AU2008213634B2 (en) 2007-02-08 2013-09-05 Sequenom, Inc. Nucleic acid-based tests for RhD typing, gender determination and nucleic acid quantification
JP2008209985A (ja) 2007-02-23 2008-09-11 Canon Inc データ処理装置、電子文書登録方法、及びコンピュータプログラム
WO2008115497A2 (en) 2007-03-16 2008-09-25 Gene Security Network System and method for cleaning noisy genetic data and determining chromsome copy number
JP2010521156A (ja) 2007-03-16 2010-06-24 ４５４ ライフ サイエンシーズ コーポレイション Ｈｉｖ薬物耐性バリアントの検出のためのシステムおよび方法
CN101641452B (zh) 2007-03-26 2013-10-23 塞昆纳姆股份有限公司 限制性核酸内切酶增强的多态序列检测
JP5262230B2 (ja) 2007-03-28 2013-08-14 独立行政法人理化学研究所 新規多型検出法
ITTO20070307A1 (it) 2007-05-04 2008-11-05 Silicon Biosystems Spa Metodo e dispositivo per la diagnosi prenatale non-invasiva
CA2688155C (en) 2007-05-31 2020-02-11 The Regents Of The University Of California High specificity and high sensitivity detection based on steric hindrance & enzyme-related signal amplification
WO2008151110A2 (en) 2007-06-01 2008-12-11 The University Of North Carolina At Chapel Hill Molecular diagnosis and typing of lung cancer variants
WO2008157264A2 (en) 2007-06-15 2008-12-24 Sequenom, Inc. Combined methods for the detection of chromosomal aneuploidy
US20090023190A1 (en) 2007-06-20 2009-01-22 Kai Qin Lao Sequence amplification with loopable primers
EP2171099A1 (en) 2007-06-20 2010-04-07 Taag-Genetics SA Nested multiplex amplification method for identification of multiple biological entities
CA2691942C (en) 2007-07-03 2017-12-05 Genaphora Ltd. Methods and kits using chimeric probes for reducing or eliminating formation of artifacts and non-specific amplification products
WO2009009769A2 (en) 2007-07-11 2009-01-15 Artemis Health, Inc. Diagnosis of fetal abnormalities using nucleated red blood cells
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
FI2557517T3 (fi) 2007-07-23 2022-11-30 Nukleiinihapposekvenssiepätasapainon määrittäminen
DK2183379T3 (en) 2007-08-01 2015-07-27 Dana Farber Cancer Inst Inc ENRICHMENT OF A TARGET SEQUENCE
WO2009019215A1 (en) 2007-08-03 2009-02-12 Dkfz Deutsches Krebsforschungszentrum Method for prenatal diagnosis using exosomes and cd24 as a marker
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
ATE549419T1 (de) 2007-08-29 2012-03-15 Sequenom Inc Verfahren und zusammensetzungen für die universelle grössenspezifische polymerasekettenreaktion
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
US8748100B2 (en) 2007-08-30 2014-06-10 The Chinese University Of Hong Kong Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences
US8148078B2 (en) 2007-09-07 2012-04-03 Fluidigm Corporation Copy number variation determination, methods and systems
EP2191012A1 (en) 2007-09-21 2010-06-02 Streck, Inc. Nucleic acid isolation in preserved whole blood
CA2697640C (en) 2007-09-21 2016-06-21 Katholieke Universiteit Leuven Tools and methods for genetic tests using next generation sequencing
WO2009049889A1 (en) 2007-10-16 2009-04-23 Roche Diagnostics Gmbh High resolution, high throughput hla genotyping by clonal sequencing
US20100086914A1 (en) 2008-10-03 2010-04-08 Roche Molecular Systems, Inc. High resolution, high throughput hla genotyping by clonal sequencing
WO2009064897A2 (en) 2007-11-14 2009-05-22 Chronix Biomedical Detection of nucleic acid sequence variations in circulating nucleic acid in bovine spongiform encephalopathy
CA2705267C (en) 2007-11-30 2018-07-31 Ge Healthcare Bio-Sciences Corp. Method for isolation of genomic dna, rna and proteins from a single sample
FR2925480B1 (fr) 2007-12-21 2011-07-01 Gervais Danone Sa Procede d'enrichissement d'une eau en oxygene par voie electrolytique, eau ou boisson enrichie en oxygene et utilisations
EP2077337A1 (en) 2007-12-26 2009-07-08 Eppendorf Array Technologies SA Amplification and detection composition, method and kit
EP2620511B1 (en) 2008-01-17 2018-02-28 Sequenom, Inc. Single molecule nucleic acid sequence analysis processes
US8852864B2 (en) 2008-01-17 2014-10-07 Sequenom Inc. Methods and compositions for the analysis of nucleic acids
ES2703363T3 (es) 2008-02-01 2019-03-08 Massachusetts Gen Hospital Uso de microvesículas en el diagnóstico y pronóstico de tumores cerebrales
WO2009099602A1 (en) 2008-02-04 2009-08-13 Massachusetts Institute Of Technology Selection of nucleic acids by solution hybridization to oligonucleotide baits
US20110033862A1 (en) 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
US20090221620A1 (en) 2008-02-20 2009-09-03 Celera Corporation Gentic polymorphisms associated with stroke, methods of detection and uses thereof
EP2271772B1 (en) 2008-03-11 2014-07-16 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20090307179A1 (en) 2008-03-19 2009-12-10 Brandon Colby Genetic analysis
AU2009228312B2 (en) 2008-03-26 2015-05-21 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
EP2274446B1 (en) 2008-03-31 2015-09-09 Pacific Biosciences of California, Inc. Two slow-step polymerase enzyme systems and methods
BRPI0911082A2 (pt) 2008-04-03 2015-08-04 Hudson Alpha Inst For Biotechnology Reação de cadeia de polimerase multiplex de resgate de amplicon para amplificações de alvos múltiplos
WO2009146335A1 (en) 2008-05-27 2009-12-03 Gene Security Network, Inc. Methods for embryo characterization and comparison
EP2128169A1 (de) 2008-05-30 2009-12-02 Qiagen GmbH Verfahren zur Isolierung von kurzkettigen Nukleinsäuren
AU2009274096B2 (en) 2008-07-21 2012-08-02 Becton, Dickinson And Company Density phase separation device
JP5555453B2 (ja) 2008-07-24 2014-07-23 スリーエム イノベイティブ プロパティズ カンパニー 研磨材製品、その製造方法及び使用方法
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
US20110178719A1 (en) 2008-08-04 2011-07-21 Gene Security Network, Inc. Methods for Allele Calling and Ploidy Calling
WO2010027870A2 (en) 2008-08-26 2010-03-11 Fluidigm Corporation Assay methods for increased throughput of samples and/or targets
DE102008045705A1 (de) 2008-09-04 2010-04-22 Macherey, Nagel Gmbh & Co. Kg Handelsgesellschaft Verfahren zur Gewinnung von kurzer RNA sowie Kit hierfür
US8586310B2 (en) 2008-09-05 2013-11-19 Washington University Method for multiplexed nucleic acid patch polymerase chain reaction
CN102216456A (zh) 2008-09-16 2011-10-12 塞昆纳姆股份有限公司 基于甲基化富集母体样品中胎儿核酸的非侵入性产前诊断用方法和组合物
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
WO2010033652A1 (en) 2008-09-17 2010-03-25 Ge Healthcare Bio-Sciences Corp. Method for small rna isolation
LT2334812T (lt) 2008-09-20 2017-04-25 The Board Of Trustees Of The Leland Stanford Junior University Neinvazinis fetalinės aneuploidijos diagnozavimas sekvenavimu
US9156010B2 (en) 2008-09-23 2015-10-13 Bio-Rad Laboratories, Inc. Droplet-based assay system
US20110159499A1 (en) 2009-11-25 2011-06-30 Quantalife, Inc. Methods and compositions for detecting genetic material
WO2010042831A2 (en) 2008-10-10 2010-04-15 Swedish Health Services Diagnosis, prognosis and treatment of glioblastoma multiforme
WO2010045617A2 (en) 2008-10-17 2010-04-22 University Of Louisville Research Foundation Detecting genetic abnormalities
US8748103B2 (en) 2008-11-07 2014-06-10 Sequenta, Inc. Monitoring health and disease status using clonotype profiles
GB2483810B (en) 2008-11-07 2012-09-05 Sequenta Inc Methods for correlating clonotypes with diseases in a population
US9506119B2 (en) 2008-11-07 2016-11-29 Adaptive Biotechnologies Corp. Method of sequence determination using sequence tags
WO2011109440A1 (en) 2010-03-01 2011-09-09 Caris Life Sciences Luxembourg Holdings Biomarkers for theranostics
US20100285478A1 (en) 2009-03-27 2010-11-11 Life Technologies Corporation Methods, Compositions, and Kits for Detecting Allelic Variants
SG172345A1 (en) 2008-12-22 2011-07-28 Celula Inc Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
US11634747B2 (en) 2009-01-21 2023-04-25 Streck Llc Preservation of fetal nucleic acids in maternal plasma
US8450063B2 (en) 2009-01-28 2013-05-28 Fluidigm Corporation Determination of copy number differences by amplification
US8304187B2 (en) 2009-02-18 2012-11-06 Streck, Inc. Preservation of cell-free RNA in blood samples
CA2757560C (en) 2009-04-02 2018-11-13 Fluidigm Corporation Multi-primer amplification method for barcoding of target nucleic acids
WO2010115044A2 (en) 2009-04-02 2010-10-07 Fluidigm Corporation Selective tagging of short nucleic acid fragments and selective protection of target sequences from degradation
EP3964586A1 (en) 2009-04-03 2022-03-09 Sequenom, Inc. Nucleic acid preparation compositions and methods
EP2417270B1 (en) 2009-04-06 2017-09-20 The Johns Hopkins University Digital quantification of dna methylation
WO2010127186A1 (en) 2009-04-30 2010-11-04 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
US8481699B2 (en) 2009-07-14 2013-07-09 Academia Sinica Multiplex barcoded Paired-End ditag (mbPED) library construction for ultra high throughput sequencing
US8825412B2 (en) 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20130196862A1 (en) 2009-07-17 2013-08-01 Natera, Inc. Informatics Enhanced Analysis of Fetal Samples Subject to Maternal Contamination
US8563242B2 (en) 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
CN101643904B (zh) 2009-08-27 2011-04-27 北京北方微电子基地设备工艺研究中心有限责任公司 深硅刻蚀装置和深硅刻蚀设备的进气系统
WO2011032078A1 (en) 2009-09-11 2011-03-17 Health Reseach Inc. Detection of x4 strains of hiv-1 by heteroduplex tracking assay
CN102575292B (zh) 2009-09-22 2015-07-29 霍夫曼-拉罗奇有限公司 与疾病相关的kir单元型的测定
CA2773186A1 (en) 2009-09-24 2011-03-31 Qiagen Gaithersburg, Inc. Compositions, methods, and kits for isolating and analyzing nucleic acids using an anion exchange material
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
ES2564656T3 (es) 2009-10-26 2016-03-28 Lifecodexx Ag Medios y métodos para el diagnóstico no invasivo de la aneuploidía cromosómica
WO2011057094A1 (en) 2009-11-05 2011-05-12 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
AU2010315084A1 (en) 2009-11-06 2012-05-31 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive diagnosis of graft rejection in organ transplant patients
EP3103883A1 (en) 2009-11-09 2016-12-14 Streck, Inc. Stabilization of rna in and extracting from intact cells within a blood sample
KR101289535B1 (ko) 2009-12-07 2013-07-24 전민용 원심분리관
CN102802412A (zh) 2009-12-08 2012-11-28 海玛奎斯特医药公司 用于治疗红细胞病症的方法及低剂量方案
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
US8574842B2 (en) 2009-12-22 2013-11-05 The Board Of Trustees Of The Leland Stanford Junior University Direct molecular diagnosis of fetal aneuploidy
DK2516680T3 (en) 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
CA2786916A1 (en) 2010-01-15 2011-07-21 The University Of British Columbia Multiplex amplification for the detection of nucleic acid variations
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
EP3492601B1 (en) 2010-01-19 2022-01-05 Verinata Health, Inc. Novel protocol for preparing sequencing libraries
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
EP2534263B1 (en) 2010-02-09 2020-08-05 Unitaq Bio Methods and compositions for universal detection of nucleic acids
PT2539472E (pt) 2010-02-26 2015-09-24 Life Technologies Corp Pcr rápida para genotipagem de str
WO2011118603A1 (ja) 2010-03-24 2011-09-29 凸版印刷株式会社 競合プライマーによる標的塩基配列の検出方法
US9255291B2 (en) 2010-05-06 2016-02-09 Bioo Scientific Corporation Oligonucleotide ligation methods for improving data quality and throughput using massively parallel sequencing
EP2566984B1 (en) 2010-05-07 2019-04-03 The Board of Trustees of the Leland Stanford Junior University Measurement and comparison of immune diversity by high-throughput sequencing
WO2011143659A2 (en) 2010-05-14 2011-11-17 Fluidigm Corporation Nucleic acid isolation methods
SG185543A1 (en) 2010-05-14 2012-12-28 Fluidigm Corp Assays for the detection of genotype, mutations, and/or aneuploidy
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US20130123120A1 (en) 2010-05-18 2013-05-16 Natera, Inc. Highly Multiplex PCR Methods and Compositions
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
WO2013052557A2 (en) 2011-10-03 2013-04-11 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US20190323076A1 (en) 2010-05-18 2019-10-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US20140206552A1 (en) 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US20190284623A1 (en) 2010-05-18 2019-09-19 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US20190309358A1 (en) 2010-05-18 2019-10-10 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20110301854A1 (en) 2010-06-08 2011-12-08 Curry Bo U Method of Determining Allele-Specific Copy Number of a SNP
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20120190557A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Risk calculation for evaluation of fetal aneuploidy
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
WO2012042374A2 (en) 2010-10-01 2012-04-05 Anssi Jussi Nikolai Taipale Method of determining number or concentration of molecules
US9267174B2 (en) 2010-10-26 2016-02-23 Stanford University Method of simultaneously screening for multiple genotypes and/or mutations
EP2633071B1 (en) 2010-10-27 2016-10-12 President and Fellows of Harvard College Compositions of toehold primer duplexes and methods of use
MY169852A (en) 2010-11-30 2019-05-17 Univ Hong Kong Chinese Detection of genetic or molecular aberrations associated with cancer
CN103620055A (zh) 2010-12-07 2014-03-05 利兰·斯坦福青年大学托管委员会 在全基因组规模非侵入性确定亲本单倍型的胎儿遗传
WO2012083250A2 (en) 2010-12-17 2012-06-21 Celula, Inc. Methods for screening and diagnosing genetic conditions
CA2821906C (en) 2010-12-22 2020-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
BR112013016708B1 (pt) 2010-12-30 2021-08-17 Foundation Medicine, Inc Otimização de análise multigene de amostras de tumor
US20120190020A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
EP3187597B1 (en) 2011-02-09 2020-06-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
GB2488358A (en) 2011-02-25 2012-08-29 Univ Plymouth Enrichment of foetal DNA in maternal plasma
WO2012129363A2 (en) 2011-03-24 2012-09-27 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
ES2806728T3 (es) 2011-04-12 2021-02-18 Verinata Health Inc Resolución de fracciones de genoma usando recuentos de polimorfismos
EP2754078A4 (en) 2011-04-14 2015-12-02 Complete Genomics Inc PROCESSING AND ANALYSIS OF COMPLEX NUCLEIC ACID SEQUENCE DATA
WO2012141712A1 (en) * 2011-04-14 2012-10-18 Verinata Health, Inc. Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
CN103748236B (zh) 2011-04-15 2018-12-25 约翰·霍普金斯大学 安全测序系统
EP3495497B1 (en) 2011-04-28 2021-03-24 Life Technologies Corporation Methods and compositions for multiplex pcr
US8460872B2 (en) 2011-04-29 2013-06-11 Sequenom, Inc. Quantification of a minority nucleic acid species
CN102876660A (zh) 2011-07-11 2013-01-16 三星电子株式会社 扩增靶核酸的方法和测定样品中的靶核酸的相对量的方法
US20130024127A1 (en) 2011-07-19 2013-01-24 John Stuelpnagel Determination of source contributions using binomial probability calculations
GB201115095D0 (en) 2011-09-01 2011-10-19 Singapore Volition Pte Ltd Method for detecting nucleosomes containing nucleotides
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
AU2012304328B2 (en) 2011-09-09 2017-07-20 The Board Of Trustees Of The Leland Stanford Junior University Methods for obtaining a sequence
JP5536729B2 (ja) 2011-09-20 2014-07-02 株式会社ソニー・コンピュータエンタテインメント 情報処理装置、アプリケーション提供システム、アプリケーション提供サーバ、アプリケーション提供方法、および情報処理方法
TR201815382T4 (tr) 2011-09-26 2018-11-21 Qiagen Gmbh Ekstraselüler nükleik asitleri izole etmek için hızlı yöntem.
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2850785C (en) 2011-10-06 2022-12-13 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
ES2646212T3 (es) 2011-10-07 2017-12-12 Murdoch Childrens Research Institute Ensayo de diagnóstico para determinar el estado de trasplante de tejidos
WO2013078470A2 (en) 2011-11-22 2013-05-30 MOTIF, Active Multiplex isolation of protein-associated nucleic acids
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
WO2013086464A1 (en) * 2011-12-07 2013-06-13 The Broad Institute, Inc. Markers associated with chronic lymphocytic leukemia prognosis and progression
US20130190653A1 (en) 2012-01-25 2013-07-25 Angel Gabriel Alvarez Ramos Device for blood collection from the placenta and the umbilical cord
JP2015508655A (ja) 2012-02-14 2015-03-23 コーネル ユニバーシティー 組み合わせたヌクレアーゼ反応、連結反応、およびポリメラーゼ反応を用いて核酸配列、発現、またはコピー変化を相対的に定量するための方法
US9670529B2 (en) 2012-02-28 2017-06-06 Population Genetics Technologies Ltd. Method for attaching a counter sequence to a nucleic acid sample
WO2013130848A1 (en) * 2012-02-29 2013-09-06 Natera, Inc. Informatics enhanced analysis of fetal samples subject to maternal contamination
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
WO2013138510A1 (en) 2012-03-13 2013-09-19 Patel Abhijit Ajit Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
US10385396B2 (en) 2012-04-19 2019-08-20 The Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free DNA
EP2653562A1 (en) 2012-04-20 2013-10-23 Institut Pasteur Anellovirus genome quantification as a biomarker of immune suppression
ES2905448T3 (es) 2012-05-10 2022-04-08 Massachusetts Gen Hospital Métodos para determinar una secuencia nucleotídica
EP2852687A4 (en) 2012-05-21 2016-10-05 Scripps Research Inst METHODS FOR PREPARING A SAMPLE
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
CN104350152B (zh) 2012-06-01 2017-08-11 欧米伽生物技术公司 选择性核酸片段回收
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014004726A1 (en) 2012-06-26 2014-01-03 Caifu Chen Methods, compositions and kits for the diagnosis, prognosis and monitoring of cancer
US20150011396A1 (en) 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
BR112015001690A2 (pt) * 2012-07-24 2017-11-07 Pharmacyclics Inc mutações associadas com a resistência a inibidores da tirosina quinase de bruton (btk)
KR101890466B1 (ko) 2012-07-24 2018-08-21 내테라, 인코포레이티드 고도의 다중 ｐｃｒ 방법 및 조성물
US10993418B2 (en) 2012-08-13 2021-05-04 Life Genetics Lab, Llc Method for measuring tumor burden in patient derived xenograft (PDX) mice
EP3639831A1 (en) * 2012-08-15 2020-04-22 Université de Montréal Method for identifying novel minor histocompatibility antigens
US20140051585A1 (en) 2012-08-15 2014-02-20 Natera, Inc. Methods and compositions for reducing genetic library contamination
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
CN105164509B (zh) 2012-08-28 2018-02-23 阿科尼生物系统公司 用于纯化核酸的方法和试剂盒
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
IL305303A (en) * 2012-09-04 2023-10-01 Guardant Health Inc Systems and methods for detecting rare mutations and changes in number of copies
WO2014149134A2 (en) 2013-03-15 2014-09-25 Guardant Health Inc. Systems and methods to detect rare mutations and copy number variation
US20140065621A1 (en) 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
JP6461800B2 (ja) 2012-10-04 2019-01-30 デイナ ファーバー キャンサー インスティチュート，インコーポレイテッド ヒトモノクローナル抗ｐｄ−ｌ１抗体および使用方法
US9669405B2 (en) 2012-10-22 2017-06-06 The Regents Of The University Of California Sterilizable photopolymer serum separator
EP3026124A1 (en) 2012-10-31 2016-06-01 Genesupport SA Non-invasive method for detecting a fetal chromosomal aneuploidy
US20220307086A1 (en) 2012-11-21 2022-09-29 Natera, Inc. Methods for simultaneous amplification of target loci
US9523121B2 (en) 2013-01-13 2016-12-20 Uni Taq Bio Methods and compositions for PCR using blocked and universal primers
WO2014122288A1 (en) 2013-02-08 2014-08-14 Qiagen Gmbh Method for separating dna by size
US9982255B2 (en) 2013-03-11 2018-05-29 Kailos Genetics, Inc. Capture methodologies for circulating cell free DNA
WO2014150300A2 (en) 2013-03-15 2014-09-25 Abbott Molecular Inc. Method for amplification and assay of rna fusion gene variants, method of distinguishing same and related primers, probes, and kits
US10385394B2 (en) 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
CA3156663A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
CN113337604A (zh) 2013-03-15 2021-09-03 莱兰斯坦福初级大学评议会 循环核酸肿瘤标志物的鉴别和用途
KR20160004265A (ko) 2013-03-15 2016-01-12 이뮤코 쥐티아이 다이아그노스틱스, 아이엔씨. 무세포 dna를 이용하는 신장 상태의 평가를 위한 방법 및 조성물
US10072298B2 (en) 2013-04-17 2018-09-11 Life Technologies Corporation Gene fusions and gene variants associated with cancer
WO2014194113A2 (en) 2013-05-29 2014-12-04 Chronix Biomedical Detection and quantification of donor cell-free dna in the circulation of organ transplant recipients
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US11694764B2 (en) 2013-09-27 2023-07-04 University Of Washington Method for large scale scaffolding of genome assemblies
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
CA3207499A1 (en) 2013-11-07 2015-05-14 The Board Of Trustees Of The Leland Stanford Junior University Cell-free nucleic acids for the analysis of the human microbiome and components thereof
WO2015083004A1 (en) 2013-12-02 2015-06-11 Population Genetics Technologies Ltd. Method for evaluating minority variants in a sample
CN106062214B (zh) 2013-12-28 2020-06-09 夸登特健康公司 用于检测遗传变异的方法和系统
EP4094834A1 (en) 2013-12-30 2022-11-30 Atreca, Inc. Analysis of nucleic acids associated with single cells using nucleic acid barcodes
EP4219744A3 (en) 2014-01-27 2023-08-30 The General Hospital Corporation Methods of preparing nucleic acids for sequencing
CN106029962A (zh) 2014-02-11 2016-10-12 豪夫迈·罗氏有限公司 靶向测序和uid过滤
US10208338B2 (en) 2014-03-03 2019-02-19 Swift Biosciences, Inc. Enhanced adaptor ligation
ES2726650T3 (es) 2014-03-14 2019-10-08 Caredx Inc Métodos de monitorización de terapias inmunosupresoras en un receptor de trasplante
EP3123380B1 (en) 2014-03-25 2020-11-04 Quest Diagnostics Investments Incorporated Detection of gene fusions by intragenic differential expression (ide) using average cycle thresholds
WO2015164432A1 (en) 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ， インコーポレイテッド 変異の検出および染色体分節の倍数性
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2015197858A1 (en) 2014-06-27 2015-12-30 INSERM (Institut National de la Santé et de la Recherche Médicale) Methods employing circulating dna and mirna as biomarkers for female infertility
ES2810300T3 (es) 2014-07-03 2021-03-08 Rhodx Inc Etiquetado y evaluación de una secuencia diana
US10954507B2 (en) 2014-07-17 2021-03-23 Qiagen Gmbh Method for isolating RNA with high yield
GB201412834D0 (en) 2014-07-18 2014-09-03 Cancer Rec Tech Ltd A method for detecting a genetic variant
CA2955367C (en) 2014-07-18 2021-11-30 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular dna and cell free dna
EP4026914A1 (en) 2014-10-08 2022-07-13 Cornell University Method for identification and relative quantification of nucleic acid methylation changes using combined nuclease, ligation, and polymerase reactions with carryover prevention
ES2708030T3 (es) 2014-10-20 2019-04-08 Inst Nat Sante Rech Med Métodos para explorar a un individuo en busca de un cáncer
EP3209403A4 (en) 2014-10-24 2018-09-12 Abbott Molecular Inc. Enrichment of small nucleic acids
CN107002130B (zh) 2014-11-11 2022-02-01 深圳华大基因研究院 多程测序
US11279974B2 (en) 2014-12-01 2022-03-22 The Broad Institute, Inc. Method for in situ determination of nucleic acid proximity
WO2016109604A2 (en) 2014-12-29 2016-07-07 InnoGenomics Technologies, LLC Multiplexed assay for quantitating and assessing integrity of cell-free dna in biological fluids for cancer diagnosis, prognosis, and surveillance
GB201501907D0 (en) 2015-02-05 2015-03-25 Technion Res & Dev Foundation System and method for single cell genetic analysis
WO2016123698A1 (en) 2015-02-06 2016-08-11 Uti Limited Partnership Diagnostic assay for post-transplant assessment of potential rejection of donor organs
WO2016138080A1 (en) 2015-02-24 2016-09-01 Trustees Of Boston University Protection of barcodes during dna amplification using molecular hairpins
ES2906221T3 (es) 2015-02-27 2022-04-13 Becton Dickinson Co Métodos para el marcado con códigos de barras de ácidos nucleicos para secuenciación
EP3835431B1 (en) 2015-03-30 2022-11-02 Becton, Dickinson and Company Methods for combinatorial barcoding
KR101850437B1 (ko) 2015-04-14 2018-04-20 이원다이애그노믹스(주) 차세대 염기서열 분석기법을 이용한 장기 이식 거부 반응 예측 방법
WO2016172373A1 (en) 2015-04-23 2016-10-27 Cellular Research, Inc. Methods and compositions for whole transcriptome amplification
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
AU2016255573A1 (en) 2015-04-30 2017-12-21 The Medical College Of Wisconsin, Inc. Multiplexed optimized mismatch amplification (MOMA)-real time PCR for assessing cell-free DNA
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
US20180291365A1 (en) 2015-06-05 2018-10-11 Qiagen Gmbh Method for separating dna by size
US20160371428A1 (en) 2015-06-19 2016-12-22 Natera, Inc. Systems and methods for determining aneuploidy risk using sample fetal fraction
WO2017004612A1 (en) 2015-07-02 2017-01-05 Arima Genomics, Inc. Accurate molecular deconvolution of mixtures samples
GB201516047D0 (en) 2015-09-10 2015-10-28 Cancer Rec Tech Ltd Method
US20180282796A1 (en) 2015-09-29 2018-10-04 Ludwig Institute For Cancer Research Ltd Typing and Assembling Discontinuous Genomic Elements
CN108368542B (zh) 2015-10-19 2022-04-08 多弗泰尔基因组学有限责任公司 用于基因组组装、单元型定相以及独立于靶标的核酸检测的方法
AU2016348439B2 (en) 2015-11-04 2023-03-09 Atreca, Inc. Combinatorial sets of nucleic acid barcodes for analysis of nucleic acids associated with single cells
US20170145475A1 (en) 2015-11-20 2017-05-25 Streck, Inc. Single spin process for blood plasma separation and plasma composition including preservative
CN105986030A (zh) 2016-02-03 2016-10-05 广州市基准医疗有限责任公司 甲基化dna检测方法
EP4071250A1 (en) 2016-03-22 2022-10-12 Myriad Women's Health, Inc. Combinatorial dna screening
US10781439B2 (en) 2016-03-30 2020-09-22 Covaris, Inc. Extraction of cfDNA from biological samples
WO2017165982A1 (en) 2016-04-01 2017-10-05 Uti Limited Partnership Plasma derived cell-free mitochondrial deoxyribonucleic acid
WO2017181146A1 (en) 2016-04-14 2017-10-19 Guardant Health, Inc. Methods for early detection of cancer
AU2017249594B2 (en) 2016-04-15 2023-08-24 Natera, Inc. Methods for lung cancer detection
EP3449019B1 (en) 2016-04-29 2023-08-23 The Medical College of Wisconsin, Inc. Multiplexed optimized mismatch amplification (moma)-target number
EP3464634B1 (en) 2016-05-24 2021-02-17 The Translational Genomics Research Institute Molecular tagging methods and sequencing libraries
US20170342477A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for Detecting Genetic Variations
JP2019526230A (ja) 2016-07-01 2019-09-19 ナテラ， インコーポレイテッド 核酸突然変異検出のための組成物及び方法
KR102610098B1 (ko) 2016-07-06 2023-12-04 가던트 헬쓰, 인크. 무세포 핵산의 프래그멘톰 프로파일링을 위한 방법
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
JP2019534016A (ja) 2016-11-02 2019-11-28 ザ メディカル カレッジ オブ ウィスコンシン，インコーポレイテッドＴｈｅ Ｍｅｄｉｃａｌ Ｃｏｌｌｅｇｅ ｏｆ Ｗｉｓｃｏｎｓｉｎ， Ｉｎｃ． 全および特異的な無細胞ｄｎａを使用しリスクを評価するための方法
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US11195126B2 (en) 2016-11-06 2021-12-07 Microsoft Technology Licensing, Llc Efficiency enhancements in task management applications
CN109906274B (zh) 2016-11-08 2023-08-25 贝克顿迪金森公司 用于细胞标记分类的方法
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
EP4050113A1 (en) 2017-01-17 2022-08-31 Life Technologies Corporation Compositions and methods for immune repertoire sequencing
EP3585889A1 (en) 2017-02-21 2020-01-01 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
WO2018237078A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. ASSESSMENT OF CONDITIONS IN GRAFT SUBJECTS USING SPECIFIC ACELLULAR DNA FROM A DONOR
WO2018237075A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. ASSESSING THE RISK OF GRAFT COMPLICATION WITH TOTAL ACELLULAR DNA
CA3067635A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. Transplant patient monitoring with cell-free dna
BR112020002555A2 (pt) 2017-08-07 2020-08-11 The Johns Hopkins University métodos e materiais para avaliar e tratar câncer
EP4212631A1 (en) 2017-09-01 2023-07-19 Life Technologies Corporation Compositions and methods for immune repertoire sequencing
US11091800B2 (en) 2017-09-20 2021-08-17 University Of Utah Research Foundation Size-selection of cell-free DNA for increasing family size during next-generation sequencing
JP2021506342A (ja) 2017-12-14 2021-02-22 ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． 移植のための移植片適合性の評価
CA3088891A1 (en) 2018-01-12 2019-07-18 Natera, Inc. Novel primers and uses thereof
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
GB201819134D0 (en) 2018-11-23 2019-01-09 Cancer Research Tech Ltd Improvements in variant detection
AU2019251504A1 (en) 2018-04-14 2020-08-13 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor DNA
EP3807884A1 (en) 2018-06-12 2021-04-21 Natera, Inc. Methods and systems for calling mutations
WO2020010255A1 (en) 2018-07-03 2020-01-09 Natera, Inc. Methods for detection of donor-derived cell-free dna
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN112673099A (zh) 2018-07-12 2021-04-16 特温斯特兰德生物科学有限公司 用于表征基因组编辑、克隆扩增的方法和试剂及相关应用
JP2021530231A (ja) 2018-07-17 2021-11-11 ナテラ， インコーポレイテッド ニューラルネットワークを使用して倍数性状態を呼び出すための方法およびシステム
WO2020041449A1 (en) 2018-08-21 2020-02-27 Zymo Research Corporation Methods and compositions for tracking sample quality
WO2020076957A1 (en) 2018-10-09 2020-04-16 Tai Diagnostics, Inc. Cell lysis assay for cell-free dna analysis
WO2020106897A1 (en) 2018-11-20 2020-05-28 Alex Brandt Methods and materials for detecting salmonella in beef
BR112021009706A2 (pt) 2018-11-21 2021-08-17 Karius, Inc. detecção e predição de doença infecciosa
CN113330121A (zh) 2018-12-17 2021-08-31 纳特拉公司 用于循环细胞分析的方法
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples
WO2020214547A1 (en) 2019-04-15 2020-10-22 Natera, Inc. Improved liquid biopsy using size selection
US20220251654A1 (en) 2019-06-06 2022-08-11 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
WO2021055968A1 (en) 2019-09-20 2021-03-25 Natera Inc. Methods for assessing graft suitability for transplantation
CA3180334A1 (en) 2020-05-29 2021-12-02 Natera, Inc. Methods for detection of donor-derived cell-free dna
US20230257816A1 (en) 2020-07-13 2023-08-17 Aoy Tomita Mitchell Methods for making treatment management decisions in transplant subjects and assessing transplant risks with threshold values
WO2022197864A1 (en) 2021-03-18 2022-09-22 Natera, Inc. Methods for determination of transplant rejection

Also Published As

Publication number Publication date
US20190194758A1 (en) 2019-06-27
US20230242998A1 (en) 2023-08-03
AU2024203154A1 (en) 2024-05-30
CN109971852A (zh) 2019-07-05
US20220213561A1 (en) 2022-07-07
JP6994058B2 (ja) 2022-01-14
JP2020072739A (ja) 2020-05-14
JP2020096601A (ja) 2020-06-25
US11486008B2 (en) 2022-11-01
US20190256931A1 (en) 2019-08-22
US11371100B2 (en) 2022-06-28
AU2022202083A1 (en) 2022-04-14
RU2016141308A3 (ja) 2018-11-19
CN106460070A (zh) 2017-02-22
US11530454B2 (en) 2022-12-20
CN113774132A (zh) 2021-12-10
JP2017519488A (ja) 2017-07-20
US11414709B2 (en) 2022-08-16
US20190194759A1 (en) 2019-06-27
AU2015249846A1 (en) 2016-11-10
US11319595B2 (en) 2022-05-03
EP3957749A1 (en) 2022-02-23
JP2022028950A (ja) 2022-02-16
JP2022028949A (ja) 2022-02-16
US20230042405A1 (en) 2023-02-09
US20220282335A1 (en) 2022-09-08
RU2717641C2 (ru) 2020-03-24
US20170107576A1 (en) 2017-04-20
JP2020072735A (ja) 2020-05-14
US11408037B2 (en) 2022-08-09
US20220154290A1 (en) 2022-05-19
JP2020072738A (ja) 2020-05-14
EP3561075A1 (en) 2019-10-30
US11319596B2 (en) 2022-05-03
US20190211402A1 (en) 2019-07-11
JP2024001359A (ja) 2024-01-09
CA2945962A1 (en) 2015-10-29
JP2020072736A (ja) 2020-05-14
JP6659575B2 (ja) 2020-03-04
AU2021209221B2 (en) 2022-03-10
AU2015249846B2 (en) 2021-07-22
EP3134541B1 (en) 2020-08-19
AU2021209221A1 (en) 2021-08-19
US20180171420A1 (en) 2018-06-21
US20190211406A1 (en) 2019-07-11
AU2015249846A2 (en) 2016-11-10
JP7362805B2 (ja) 2023-10-17
AU2022202083B2 (en) 2024-04-18
CN106460070B (zh) 2021-10-08
JP7030860B2 (ja) 2022-03-07
JP6994059B2 (ja) 2022-01-14
US20180320239A1 (en) 2018-11-08
JP2020072737A (ja) 2020-05-14
EP3134541A1 (en) 2017-03-01
RU2016141308A (ru) 2018-05-22
CA2945962C (en) 2023-08-29
US10179937B2 (en) 2019-01-15
JP2022065151A (ja) 2022-04-26

Similar Documents

Publication Publication Date Title
HK1232260A1 (zh) 檢測染色體部位的突變和倍性
IL247252A0 (en) History of isoquinoline and its use
IL252216A0 (en) Difluoromethyl-aminopyridines and difluoromethyl-aminopyrimidines
ZA201607874B (en) Modified vinylamine containing polymers and their use in papermaking
GB2522671B (en) Measurement in MBMS
SG11201607082PA (en) New tetracyano-anthraquino-dimethane polymers and use thereof
GB201413033D0 (en) Object detection in a wireless charging field
GB201512044D0 (en) Application in German
GB2525495B (en) Labelling machine and labelling methods
EP3191581C0 (en) TARGETED MUTAGENESIS IN SPIRULINA
HK1243077A1 (zh) 呱啶基吡唑並嘧啶酮及其用途
GB201410226D0 (en) Methods and arrays for use in the same
GB2529250B (en) Improvements in hinge assemblies
EP2987969A4 (en) TURNING DEVICE AND TURNING MACHINE
PL3320798T3 (pl) Środki blokujące oraz woreczek ze środkami blokującymi
GB201510461D0 (en) New polymers and methods
PT3204190T (pt) Artigo abrasivo texturizado e métodos relacionados
GB201509975D0 (en) Detecting chromosomal aneuploidy
GB201408091D0 (en) Methods and uses
GB201523035D0 (en) In terferometry
GB201404030D0 (en) Paintbrush and guard
PL3229772T3 (pl) 6-arylo-9-glikozylopuryny i ich zastosowanie
ZA201505928B (en) Built in gas-fired braii unit
GB201404831D0 (en) Animalistic studies in nature
GB201404807D0 (en) Art in summation